Canonical Allele Identifier: CA399482267

Gene: KRT14

Linked Data

• dbSNP Id: rs1272288927
• gnomAD v2: 17-39742665-G-A
• gnomAD v4: 17-41586413-G-A
• MyVariant Identifiers: chr17:g.39742665G>A (hg19) ; chr17:g.41586413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586413G>A , CM000679.2:g.41586413G>A	GRCh38
NC_000017.10:g.39742665G>A , CM000679.1:g.39742665G>A	GRCh37
NC_000017.9:g.36996191G>A	NCBI36
NG_008624.1:g.5483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.422C>T MANE Select	ENSP00000167586.6:p.Ala141Val
ENST00000167586.6:c.422C>T	ENSP00000167586.6:p.Ala141Val
NM_000526.4:c.422C>T	NP_000517.2:p.Ala141Val
NM_000526.5:c.422C>T MANE Select	NP_000517.3:p.Ala141Val